Incidental Mutation 'IGL03091:Fmc1'
ID 418369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmc1
Ensembl Gene ENSMUSG00000019689
Gene Name formation of mitochondrial complex V assembly factor 1
Synonyms 1110001J03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL03091
Quality Score
Status
Chromosome 6
Chromosomal Location 38511796-38516384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38516170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 72 (S72I)
Ref Sequence ENSEMBL: ENSMUSP00000019833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019833]
AlphaFold Q9CR13
Predicted Effect probably damaging
Transcript: ENSMUST00000019833
AA Change: S72I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147651
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 A T 4: 126,352,982 (GRCm39) Y314N probably damaging Het
Aknad1 A G 3: 108,659,219 (GRCm39) T78A possibly damaging Het
Arhgap33 G A 7: 30,227,718 (GRCm39) P494S probably damaging Het
Babam2 T A 5: 31,943,022 (GRCm39) probably null Het
Ces2g T C 8: 105,691,386 (GRCm39) V174A probably damaging Het
Chd1l G A 3: 97,470,863 (GRCm39) R811C probably damaging Het
Crot A T 5: 9,016,897 (GRCm39) H598Q probably benign Het
Dtx2 C T 5: 136,041,228 (GRCm39) S211L probably damaging Het
Duox2 T G 2: 122,119,955 (GRCm39) M852L probably benign Het
Fut1 T C 7: 45,268,951 (GRCm39) C302R probably damaging Het
Gm6401 T C 14: 41,786,615 (GRCm39) T184A possibly damaging Het
Gsdma2 C T 11: 98,542,828 (GRCm39) T29I probably damaging Het
Lgi2 C A 5: 52,721,307 (GRCm39) probably null Het
Lipe A G 7: 25,080,180 (GRCm39) L926P probably damaging Het
Lrp1 T A 10: 127,394,993 (GRCm39) I2511F probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Nbea A G 3: 55,992,725 (GRCm39) S294P probably damaging Het
Neb T A 2: 52,161,324 (GRCm39) H2156L probably benign Het
Neo1 A T 9: 58,885,951 (GRCm39) N335K probably damaging Het
Nox3 G T 17: 3,716,119 (GRCm39) Q429K probably benign Het
Odad4 T A 11: 100,441,076 (GRCm39) Y102* probably null Het
Pkd1l1 T C 11: 8,805,564 (GRCm39) R1671G probably damaging Het
Plec T C 15: 76,073,503 (GRCm39) T504A possibly damaging Het
Pou5f1 G T 17: 35,820,939 (GRCm39) R127L probably benign Het
Prkdc T A 16: 15,523,174 (GRCm39) probably benign Het
Rassf8 T A 6: 145,761,536 (GRCm39) N287K probably benign Het
Rdh16 T C 10: 127,649,502 (GRCm39) probably benign Het
Ryr1 G A 7: 28,782,911 (GRCm39) A1901V possibly damaging Het
Scnn1g A G 7: 121,345,906 (GRCm39) Y343C probably damaging Het
Sema5a A G 15: 32,538,880 (GRCm39) probably benign Het
Slc9b2 G A 3: 135,034,791 (GRCm39) V310M probably damaging Het
Stox2 T A 8: 47,646,222 (GRCm39) I477F possibly damaging Het
Terb1 A T 8: 105,195,786 (GRCm39) H548Q probably benign Het
Tsks G A 7: 44,607,319 (GRCm39) M547I possibly damaging Het
Tuba8 G A 6: 121,197,403 (GRCm39) E22K probably damaging Het
Wee2 T C 6: 40,438,968 (GRCm39) F364L probably benign Het
Zfp644 A G 5: 106,784,724 (GRCm39) Y608H probably damaging Het
Other mutations in Fmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3887:Fmc1 UTSW 6 38,516,223 (GRCm39) missense probably benign 0.10
R4988:Fmc1 UTSW 6 38,511,917 (GRCm39) missense probably benign 0.26
R8428:Fmc1 UTSW 6 38,516,115 (GRCm39) nonsense probably null
Posted On 2016-08-02